P56716 (RP1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Oxygen-regulated protein 1

Alternative name(s):
Retinitis pigmentosa RP1 protein homolog

Gene names

Name:	Rp1
Synonyms:	Orp1, Rp1h

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	2095 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme. Ref.6 Ref.7
Subunit structure	Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1. Interacts with MAK. Ref.7 Ref.9 Ref.10
Subcellular location	Cytoplasm › cytoskeleton › cilium axoneme. Cell projection › cilium › photoreceptor outer segment. Note: Specifically localized in the connecting cilia of rod and cone photoreceptors. Ref.5 Ref.6 Ref.7
Tissue specificity	Expressed in the cell bodies and inner segments of photoreceptors. Not found in liver, spleen, kidney, brain, thymus, muscle, heart, lung and testis.
Induction	Gene expression is stimulated by retinal hypoxia and suppressed by relative retinal hyperoxia.
Domain	The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation By similarity.
Disruption phenotype	As early as postnatal day 7, mice have already undergone significant molecular retinal changes. The molecular responses change dramatically during development and were distinct from responses to the disruption of the photoreceptor transcription factors Crx, Pde6b and Nrl. The JNK signaling cascades are specifically compromised in Rp1 defective retinas. Double heterozygotes of Rp1 and Rp1l1 exhibit abnormal outer segment morphology and reduced single rod photosensitivity and dark currents. Ref.8 Ref.9
Sequence similarities	Contains 2 doublecortin domains.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation Sensory transduction Vision
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Domain	Repeat
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	axoneme assembly Inferred from direct assay Ref.7. Source: UniProtKB cellular response to light stimulus Inferred from mutant phenotype PubMed 21052544. Source: MGI intracellular signal transduction Inferred from electronic annotation. Source: InterPro photoreceptor cell maintenance Inferred from mutant phenotype Ref.8. Source: UniProtKB photoreceptor cell outer segment organization Inferred from direct assay Ref.6. Source: UniProtKB retinal cone cell development Inferred from direct assay Ref.6. Source: UniProtKB retinal rod cell development Inferred from direct assay Ref.6. Source: UniProtKB
Cellular_component	cilium axoneme Inferred from direct assay PubMed 20368623. Source: MGI microtubule associated complex Inferred from direct assay Ref.7. Source: UniProtKB photoreceptor connecting cilium Inferred from direct assay Ref.6. Source: UniProtKB photoreceptor inner segment Inferred from direct assay Ref.5. Source: UniProtKB photoreceptor outer segment Inferred from direct assay Ref.6Ref.7. Source: UniProtKB
Molecular_function	microtubule binding Inferred from direct assay Ref.7. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2095	2095	Oxygen-regulated protein 1		PRO_0000097411
Regions
	Domain	35 – 117	83	Doublecortin 1
	Domain	157 – 236	80	Doublecortin 2
	Compositional bias	655 – 660	6	Poly-Lys

Sequences

	Sequence		Length	Mass (Da)
	P56716 [UniParc]. Last modified June 6, 2002. Version 2. Checksum: CA5301316633BD62	FASTA	2,095	234,388
	10 20 30 40 50 60 MSDTPSTSFS MIHLTSEGQV PSPRHSNITH PVVAKRISFY KSGDPQFGGV RVVVNPRSFK 70 80 90 100 110 120 TFDALLDSLS RKVPLPFGVR NISTPRGRHS ITRLEELEDG KSYVCSHNKK VLPVDLDKAR 130 140 150 160 170 180 RRPRPWLSSR SISTHVQLCP ATANMSTMAP GMLRAPRRLV VFRNGDPKNK HVVLLSRRIT 190 200 210 220 230 240 QSFEAFLQYL TQVMQCPVAK LYATDGRKVP SLQAVILSSG AVVAAGREPF KPGNYDIQKY 250 260 270 280 290 300 LLPAKLPGIS HRVHQKGKAK IEKRKMSTHM PSDLRPQTDS LISEKTYDCF SDFSVAPENY 310 320 330 340 350 360 LALETHESQS LSTYPSEDDV EKSIVFNQDG TMTVVMKVRF KIKEEETVKW TTTVNRAGLS 370 380 390 400 410 420 NNDEKNKKSS YPGKTDYGPS SLKLEACSLP EDIVDTTQQG SLTEEENTQM TEQQALSCSS 430 440 450 460 470 480 ASWENASMET DIQESQKQVK HFYRPPTPGP RRMRQKKSVI GTVTVVSETE VQEKQFSYSE 490 500 510 520 530 540 ERKGGEKSEY HMFTHSCSKM SSVSNKLVQI GSDNEMESAL ERTRESGSLK SQAINAGAIE 550 560 570 580 590 600 ITSQKVLKMC HNNALPSTAP ENSVVEEGTD NSAVSGTATI KHFRTCGNAN DSFSSITADS 610 620 630 640 650 660 TPTSVNNYSN DRNISELPSV GSPVLTMRLV NEFAHCGLTE KPENRKKVLS SSASKKKKKK 670 680 690 700 710 720 SQQRMITSND KKKVIETKGP PNIAGKIPRA GTTAQERLLQ ESDCPDKGGR VCEQGLNISP 730 740 750 760 770 780 MAIESNNFFP KSNPTFSKNF YKNKLNTFQN PKTQKLLAKR KSRPRKIVST ERLRKQEIGQ 790 800 810 820 830 840 EDKILLHSDS KLCESHLEKQ SLFHVFNILE EDQKVLHRPP FQVEKVARNL KGMAKKSLVP 850 860 870 880 890 900 KVNDLHIMLR NQKKQMGVKL KSGAEVSEQH VTTRADPLAS LKKPDFPEGI PHHSGKSYVK 910 920 930 940 950 960 RWLQNINSYP DFEHRKSGPL CQNRSDVVNY NRNGFLGNNL HTTSSKGNGF LMESNKSKTK 970 980 990 1000 1010 1020 NDNWSGNTNQ ETGKSLVAKD NGEELNKHHC ESQNGSLYDS YLVSLHDNCT LSQTTINEPS 1030 1040 1050 1060 1070 1080 TKSHLSIEKS RPEVKLVYQE MNFATKRQSI EVAIQVDTMG ENVLKDYLPA LLLRHLEAFV 1090 1100 1110 1120 1130 1140 PNNQKHQNGI SQIPGSLAEV VFPSVIDNSS TNLLLAWLLV LNLKRTMNSF CQSDAHKMTN 1150 1160 1170 1180 1190 1200 RPSETAALLE VLKHVAITEE ADDLKAAVAN LMESTKTCSG SSGREQDMLP VNCTASSLHS 1210 1220 1230 1240 1250 1260 VDECNENGSA QKTLLDEGYS VMGDCTSEMV SKSCNSSCEM HMVSKTNPPK QVDDQSDGLL 1270 1280 1290 1300 1310 1320 TSNSCTVSQR STGACFLTDG VYSHEACAQK EGVYEGACLS DETHIPIRDC HTIHSVHSKE 1330 1340 1350 1360 1370 1380 NKCTDDLEST EELKTVDKVP KGLSILADSM YKNDSNVSTF QNVNKLSSQR TLLSKTYLDS 1390 1400 1410 1420 1430 1440 DKDYSPLEEF QNCPRKKIVN KKKSISSDKE ESRTSEEPRS ITNSMTSSER NAISELESFE 1450 1460 1470 1480 1490 1500 ELESQDTSIF NMNVRAEKKS TKETMQKQSE ARMSSELINV SGRKIIEQER RNTAILETTA 1510 1520 1530 1540 1550 1560 RGQVTPPSLA FCYDSNKNTE KEISEGETKM RVKKMVDSME NESYSESSLN FKKHHRSPGT 1570 1580 1590 1600 1610 1620 LDWSDYGSDS ESGYPCKASS NSHNDDSGQE KEPTRGIVKR AIEKLYGKAE IIKPPFFHGS 1630 1640 1650 1660 1670 1680 IHKSQVCPYN SVEVQCAKKT NFYESECQSL VSSEQVSRSS LIFQEFPQVD ANGMGDSFGD 1690 1700 1710 1720 1730 1740 SSIENVTKSS AHDRVFTEKE NGKLIDNGKW LLRENHLWRV SSDNPGMYGN ADTTSVDTLI 1750 1760 1770 1780 1790 1800 DKNSIEVPYS HFGELAPGPT MAELSSSEIE EMTQPLEVKC NYFNFPHGSD SEPFGEDFPD 1810 1820 1830 1840 1850 1860 AQNKTCPKEK IPNHHTEEKG NYPSERLCTS VTQAFVSAGN KVHPVCSDAI KTQPLPGSNI 1870 1880 1890 1900 1910 1920 THGALQEGDS LDKLYALCGQ HCPILTVIIQ PVNEESRGFA YRKDSDIENS LDFQLWMKIY 1930 1940 1950 1960 1970 1980 PFMPQSKKHV FRSDGRNVSV GEEFAGNVIG DLCDQLYFKS MIDLVDQRAN SLGKEINLKK 1990 2000 2010 2020 2030 2040 FQLYLKKSFS DPLSTSLLVV ENRNSVSLSP SSWTDNFKSI DENNNFLNRL PNSSKNPNQV 2050 2060 2070 2080 2090 VRENTNFQFH LELFGQVYLL DICQVEKPLN IKTRSKLEMY YILEGEVLFI WEEEK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa." Pierce E.A., Quinn T., Meehan T., McGee T.L., Berson E.L., Dryja T.P. Nat. Genet. 22:248-254(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SEQUENCE REVISION TO 67-76. Tissue: Retina.
[2]	"Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene." Gao J., Cheon K., Nusinowitz S., Liu Q., Bei D., Atkins K., Azimi A., Daiger S.P., Farber D.B., Heckenlively J.R., Pierce E.A., Sullivan L.S., Zuo J. Proc. Natl. Acad. Sci. U.S.A. 99:5698-5703(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Strain: 129/Sv.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Lubec G., Sunyer B., Chen W.-Q. Submitted (JAN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 357-367, MASS SPECTROMETRY. Strain: OF1. Tissue: Hippocampus.
[5]	"Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors." Liu Q., Zhou J., Daiger S.P., Farber D.B., Heckenlively J.R., Smith J.E., Sullivan L.S., Zuo J., Milam A.H., Pierce E.A. Invest. Ophthalmol. Vis. Sci. 43:22-32(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[6]	"RP1 is required for the correct stacking of outer segment discs." Liu Q., Lyubarsky A., Skalet J.H., Pugh E.N. Jr., Pierce E.A. Invest. Ophthalmol. Vis. Sci. 44:4171-4183(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[7]	"The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein." Liu Q., Zuo J., Pierce E.A. J. Neurosci. 24:6427-6436(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH MICROTUBULES, SUBCELLULAR LOCATION.
[8]	"Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations." Liu J., Huang Q., Higdon J., Liu W., Xie T., Yamashita T., Cheon K., Cheng C., Zuo J. Hum. Mol. Genet. 14:2945-2958(2005) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE.
[9]	"Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa." Yamashita T., Liu J., Gao J., LeNoue S., Wang C., Kaminoh J., Bowne S.J., Sullivan L.S., Daiger S.P., Zhang K., Fitzgerald M.E., Kefalov V.J., Zuo J. J. Neurosci. 29:9748-9760(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH RP1L1, DISRUPTION PHENOTYPE.
[10]	"Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival." Omori Y., Chaya T., Katoh K., Kajimura N., Sato S., Muraoka K., Ueno S., Koyasu T., Kondo M., Furukawa T. Proc. Natl. Acad. Sci. U.S.A. 107:22671-22676(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MAK.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF155141 mRNA. Translation: AAD42089.2. AF291754 Genomic DNA. Translation: AAM17919.1. BC120927 mRNA. Translation: AAI20928.1. BC120928 mRNA. Translation: AAI20929.1.
IPI	IPI00115362.
RefSeq	NP_035413.1. NM_011283.2.
UniGene	Mm.294263.
3D structure databases
ProteinModelPortal	P56716.
SMR	P56716. Positions 34-108.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59493N.
STRING	10090.ENSMUSP00000111202.
PTM databases
PhosphoSite	P56716.
Proteomic databases
PaxDb	P56716.
PRIDE	P56716.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000027032; ENSMUSP00000027032; ENSMUSG00000025900.
GeneID	19888.
KEGG	mmu:19888.
Organism-specific databases
CTD	6101.
MGI	MGI:1341105. Rp1.
Phylogenomic databases
eggNOG	NOG313727.
GeneTree	ENSGT00530000063898.
HOGENOM	HOG000136857.
HOVERGEN	HBG018173.
OMA	NPRSFKT.
Gene expression databases
ArrayExpress	P56716.
Bgee	P56716.
CleanEx	MM_RP1H.
Genevestigator	P56716.
GermOnline	ENSMUSG00000025900. Mus musculus.
Family and domain databases
Gene3D	3.10.20.230. 2 hits.
InterPro	IPR003533. Doublecortin_dom. [Graphical view]
Pfam	PF03607. DCX. 2 hits. [Graphical view]
SMART	SM00537. DCX. 2 hits. [Graphical view]
SUPFAM	SSF89837. Doublecortin_dom. 2 hits.
PROSITE	PS50309. DC. 2 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	297400.
SOURCE	Search...

Entry information

Entry name

RP1_MOUSE

Accession

Primary (citable) accession number: P56716
Secondary accession number(s): Q548Q8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	June 6, 2002
Last modified:	May 1, 2013
This is version 82 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program